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Molecular Testing for Ossifying Fibromyxoid Tumor

Last updated March 7, 2017

What are other Names for this Test? (Equivalent Terms)

  • Gene Mutation Analysis for Ossifying Fibromyxoid Tumor
  • Molecular Testing for OFMT
  • Test for Molecular Diagnosis of Ossifying Fibromyxoid Tumor

What is Molecular Testing for Ossifying Fibromyxoid Tumor? (Background Information)

  • Molecular Testing for Ossifying Fibromyxoid Tumor is a genetic test that is helpful in aiding a diagnosis of ossifying fibromyxoid tumor. The lab test results may also be subsequently useful in taking appropriate treatment decisions
  • Ossifying fibromyxoid tumor (OFMT) of soft parts is an infrequent tumor with low-to-intermediate grade metastatic ability. Middle-aged individuals are most prone to this tumor type
  • OFMT is usually painless and occurs as tiny multiple nodules, attached to adjoining muscles and tendons. The most common location for these tumors are the arms and legs

The cause of ossifying fibromyxoid tumor is due to genetic mutations. Currently, studies indicate defects in the following gene:

  • PHF1

Additionally, the following chromosomal anomalies have been noted:

  • 6p21
  • Or, monosomy in chromosome 22 (observed more often in malignant tumors)

The above genetic abnormalities can be detected using molecular studies, which may play a significant role in identifying the tumor type, and in some cases, helping the healthcare provider take appropriate treatment decisions.

The molecular testing, in general, can be performed using a variety of methods. Some of these methods include:

  • In situ hybridization technique, such as fluorescence in situ hybridization (FISH)
  • Immunohistochemistry (IHC)
  • Next-generation sequencing (NGS)
  • Polymerase chain reaction (PCR)
  • Tissue microarrays (TMAs)
  • Southern blot test
  • Northern blot test
  • Western blot test
  • Eastern blot test

The methodology used for ossifying fibromyxoid tumor may vary from one laboratory to another.

What are the Clinical Indications for performing the Molecular Testing for Ossifying Fibromyxoid Tumor Test?

Molecular Testing for Ossifying Fibromyxoid Tumor is undertaken in the following situations: 

  • To assist (and in some cases, confirm) the initial diagnosis of ossifying fibromyxoid tumor
  • To distinguish other tumors/conditions that have similar histological features, when examined by a pathologist under the microscope
  • To help in determining treatment options
  • To confirm recurrence of the tumor: Tumor recurrence can either be at the original tumor site, or at a distant location (away from the initial site)

How is the Specimen Collected for Molecular Testing for Ossifying Fibromyxoid Tumor?

Following is the specimen collection process for Molecular Testing for Ossifying Fibromyxoid Tumor:

The specimen sample requirements may vary from lab to lab. Hence, it is important to contact the testing lab for exact specimen requirements, before initiating the testing process.

  • Sample required:
    • Fresh tumor tissue during biopsy
    • Formalin-fixed paraffin-embedded solid tumor tissue (FFPE tumor tissue), often referred to as paraffin block of the tumor
    • Unstained tissue slides
  • Process of obtaining the sample: As outlined by the laboratory testing facility
  • Preparation required: As outlined by the laboratory testing facility


  • Depending on the location of testing, it may take up to 2 weeks’ turnaround time, to obtain the test results
  • Many hospitals preserve the paraffin blocks for at least 7 years. In general, older paraffin blocks (over 5 years) may affect the detection of specific mutations, due to degradation of the tumor specimen over time

What is the Significance of the Molecular Testing for Ossifying Fibromyxoid Tumor Result?

The significance of Molecular Testing for Ossifying Fibromyxoid Tumor is explained:

  • Presence of a positive test result helps aid, and in some cases, confirm the diagnosis of ossifying fibromyxoid tumor
  • The result can help exclude other tumors with similar histological features
  • It can help determine the prognosis of the patient
  • In some cases, the test results may help in taking treatment decisions

The laboratory test results are NOT to be interpreted as results of a "stand-alone" test. The test results have to be interpreted after correlating with suitable clinical findings and additional supplemental tests/information. Your healthcare providers will explain the meaning of your tests results, based on the overall clinical scenario.

Additional and Relevant Useful Information:

  • Many laboratories may not have the capability to perform this test. Only highly-specialized labs with advanced facilities and testing procedures may perform this test
  • Additional mutations are still being discovered in many of these tumors. This may further contribute towards tumor diagnosis and treatment. Please consult with your healthcare provider for any information updates

Certain medications that you may be currently taking may influence the outcome of the test. Hence, it is important to inform your healthcare provider of the complete list of medications (including any herbal supplements) you are currently taking. This will help the healthcare provider interpret your test results more accurately and avoid unnecessary chances of a misdiagnosis.

What are some Useful Resources for Additional Information?

The following DoveMed website link is a useful resource for additional information:


Please visit our Laboratory Procedures Center for more physician-approved health information:


References and Information Sources used for the Article:

https://ghr.nlm.nih.gov/primer/testing/genetictesting (accessed on 02/17/2017)

https://www.cdc.gov/mmwr/preview/mmwrhtml/rr5806a1.htm (accessed on 02/17/2017)

http://www.nature.com/gim/journal/v10/n5/full/gim200852a.html (accessed on 02/17/2017)

http://pediatrics.aappublications.org/content/106/6/1494 (accessed on 02/17/2017)

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3193600/ (accessed on 02/17/2017)

http://www.archivesofpathology.org/doi/pdf/10.5858/arpa.2014-0590-RS?code=coap-site (accessed on 02/17/2017)

https://www.ncbi.nlm.nih.gov/pubmed/26732302 (accessed on 02/17/2017)

Helpful Peer-Reviewed Medical Articles:

Carrano, A. V., et al. Measurement and purification of human chromosomes by flow cytometry and sorting. Proceedings of the National Academy of Sciences 76, 1382–1384 (1979)

Drets, M. E., & Shaw, M. W. Specific banding patterns of human chromosomes. Proceedings of the National Academy of Sciences 68, 2073–2077 (1971)

Druker, B. J. Perspectives on the development of a molecularly targeted agent. Cancer Cell 1, 31–36 (2002)

Parra, I., & Windle, B. High resolution visual mapping of stretched DNA by fluorescent hybridization. Nature Genetics 5, 17–21 (1993) doi:10.1038/ng0993-17

Pinkel, D., et al. High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nature Genetics 20, 207–211 (1998) doi:10.1038/2524

Speicher, M. R., et al. Karyotyping human chromosomes by combinatorial multi-fluor FISH. Nature Genetics 12, 368–375 (1996) doi:10.1038/ng0496-368

Graham, R. P., Dry, S., Li, X., Binder, S., Bahrami, A., Raimondi, S. C., ... & Folpe, A. L. (2011). Ossifying fibromyxoid tumor of soft parts: a clinicopathologic, proteomic and genomic study. The American journal of surgical pathology, 35(11), 1615.

Graham, R. P., Weiss, S. W., Sukov, W. R., Goldblum, J. R., Billings, S. D., Dotlic, S., & Folpe, A. L. (2013). PHF1 rearrangements in ossifying fibromyxoid tumors of soft parts: a fluorescence in situ hybridization study of 41 cases with emphasis on the malignant variant. The American journal of surgical pathology, 37(11), 1751-1755.

Gebre-Medhin, S., Nord, K. H., Möller, E., Mandahl, N., Magnusson, L., Nilsson, J., ... & Domanski, H. A. (2012). Recurrent rearrangement of the PHF1 gene in ossifying fibromyxoid tumors. The American journal of pathology, 181(3), 1069-1077.

Endo, M., Kohashi, K., Yamamoto, H., Ishii, T., Yoshida, T., Matsunobu, T., ... & Oda, Y. (2013). Ossifying fibromyxoid tumor presenting EP400-PHF1 fusion gene. Human pathology, 44(11), 2603-2608.

Kondylidou-Sidira, A., Kyrgidis, A., Antoniades, H., & Antoniades, K. (2011). Ossifying fibromyxoid tumor of head and neck region: case report and systematic review of literature. Journal of Oral and Maxillofacial Surgery, 69(5), 1355-1360.

Ideta, S., Nishio, J., Aoki, M., Ishimatsu, T., Nabeshima, K., Iwasaki, H., & Naito, M. (2013). Imaging findings of ossifying fibromyxoid tumor with histopathological correlation: A case report. Oncology letters, 5(4), 1301-1304.

Ohta, K., Taki, M., Ogawa, I., Ono, S., Mizuta, K., Fujimoto, S., ... & Kamata, N. (2013). Malignant ossifying fibromyxoid tumor of the tongue: case report and review of the literature. Head & face medicine, 9(1), 16.

Thway, K., Chisholm, J., Hayes, A., Swansbury, J., & Fisher, C. (2015). Pediatric low-grade fibromyxoid sarcoma mimicking ossifying fibromyxoid tumor: adding to the diagnostic spectrum of soft tissue tumors with a bony shell. Human pathology, 46(3), 461-466.

Shetty, S. D., Salib, R. J., Nair, S. B., Mathad, N., & Theaker, J. (2010). Ossifying fibromyxoid tumour of the sphenoid sinus. The Journal of Laryngology & Otology, 124(04), 437-440.

Sangala, J. R., Park, P., Blaivas, M., & LaMarca, F. (2010). Paraspinal malignant ossifying fibromyxoid tumor with spinal involvement. Journal of Clinical Neuroscience, 17(12), 1592-1594.

Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: March 7, 2017
Last updated: March 7, 2017